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KMID : 0389420100180030237
Korean Journal of Stress Research
2010 Volume.18 No. 3 p.237 ~ p.243
Association of Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms with Obesity in Korean Population
Kim Su-Kang

Yang Seung-Ae
Abstract
The methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in metabolism of folate. To examine MTHFR gene and its relation to obesity in Korean population, 209 overweight/obese and 160 healthy control subjects were enrolled in this study. Three single nucleotide polymorphisms (SNPs, rs1537514, rs11559040, and rs1801133) in exon region and seven SNPs (rs3818762, rs12121543, rs1994798, rs6541003, rs4846052, rs17037396, and rs17367504) in intron region of MTHFR gene were selected. Genomic DNA was extracted from peripheral blood, and the genotyping was performed using Affymetrix targeted genotyping chip array. For analysis of genetic data, SNPStats, HelixTree, SNPAnalyzer, and Haploview version 4.2 softwares were used. Multiple logistic regression models (codominant 1, codominant 2, dominant, and recessive models) were performed for odds ratio (OR), 95% confidence interval (CI), and p value. To obtain the defined results, p values were recalculated by Bonferroni correction. After Bonferroni correction, genotype distributions of two SNPs showed significant associations with overweight/obese (rs1537514, OR=2.73, 95% CI=1.36¡­5.47, p=0.030 in dominant model) (rs17367504, OR=2.63, 95% CI=1.39¡­4.98, p=0.030 in codominant 1 model; OR=2.84, 95% CI=1.51-5.34, p=0.010 in dominant model). Alleles of rs1537514 and rs17367504 were associated with overweight/obese (rs1537514, OR=2.76, 95% CI=1.43¡­5.36, p=0.030; rs17367504, OR=2.84, 95% CI=1.57¡­5.15, p=0.010). Haplotype (CGACGCT) was also correlated with overweight/obese (chi square=9.312, p=0.002). These results indicate that MTHFR gene may be associated with obesity in Korean population.
KEYWORD
Methylenetetrahydrofolate reductase, Obesity, Overweight, Single nucleotide polymorphism, Association study
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